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Journal Abstract Search

401 related items for PubMed ID: 6798072

  • 1. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
    Burri BJ, Sweetman L, Nyhan WL.
    J Clin Invest; 1981 Dec; 68(6):1491-5. PubMed ID: 6798072
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  • 2. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
    Burri BJ, Sweetman L, Nyhan WL.
    Am J Hum Genet; 1985 Mar; 37(2):326-37. PubMed ID: 3920902
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  • 4. Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
    Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C.
    Am J Hum Genet; 1984 Jan; 36(1):80-92. PubMed ID: 6141728
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  • 6. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
    Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R.
    Pediatr Res; 1997 May; 41(5):666-73. PubMed ID: 9128289
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  • 11. Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.
    Saunders M, Sweetman L, Robinson B, Roth K, Cohn R, Gravel RA.
    J Clin Invest; 1979 Dec; 64(6):1695-702. PubMed ID: 115903
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  • 13. Enzyme studies in biotin-responsive disorders.
    Bartlett K, Ghneim HK, Stirk HJ, Wastell H.
    J Inherit Metab Dis; 1985 Dec; 8 Suppl 1():46-52. PubMed ID: 2864473
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  • 16. Multiple carboxylase deficiency.
    Nyhan WL.
    Int J Biochem; 1988 Dec; 20(4):363-70. PubMed ID: 3284772
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  • 18. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
    Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL.
    Pediatrics; 1981 Jul; 68(1):113-8. PubMed ID: 6787561
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  • 20. Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
    Packman S, Caswell NM, Baker H.
    Biochem Genet; 1982 Feb; 20(1-2):17-28. PubMed ID: 6807281
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